Pulmonary arterial hypertension

Gene: SMAD9

Green List (high evidence)

SMAD9 (SMAD family member 9)
EnsemblGeneIds (GRCh38): ENSG00000120693
EnsemblGeneIds (GRCh37): ENSG00000120693
OMIM: 603295, Gene2Phenotype
SMAD9 is in 6 panels

2 reviews

Louise Daugherty (Genomics England Curator)

Green List (high evidence)

Initial gene list and info collated by Ian Berry Leeds Genetics Laboratory November 2018 on behalf of the GMS Respiratory specialist test group. Gene Symbol submitted: SMAD9; Suggested initial gene rating: Green; Evidence for inclusion: OMIM PPH gene; Evidence for exclusion: none given; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none given
Created: 6 Dec 2018, 2:01 p.m.
In PMID: 20301658 it was noted that most heritable PAH (75%) is caused by a pathogenic variant in BMPR2; pathogenic variants in other genes (i.e., ACVRL1, KCNK3, CAV1, SMAD9, BMPR1B,) are considerably less common (1-3%). In PMID: 21898662 candidate gene analysis was undertaken, members of the bone morphogenetic protein (BMP) pathway, namely SMAD1, SMAD4 and SMAD9, were screened by direct sequencing for gene defects. Four variants were identified among a cohort of 324 PAH cases. In PMID: 24355637 it was noted that SMAD9 variants are more compelling, because these data are supported by the development of clinical and histopathological features of pulmonary hypertension in a Smad9 knock-out mouse model (PMID:19419974). There have been at least three independent cases reported for HPAH caused by SMAD9 variant (PMID:19211612;21898662,21920918).
Created: 9 Jun 2017, 2:12 p.m.

BRIDGE consortium (NIHRBR-RD)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Idiopathic pulmonary arterial hypertension; IPAH; Heritable pulmonary arterial hypertension; HPAH; Pulmonary arterial hypertension

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • NHS GMS
  • Expert list
  • Radboud University Medical Center, Nijmegen
  • Emory Genetics Laboratory
  • Illumina TruGenome Clinical Sequencing Services
  • UKGTN
  • Eligibility statement prior genetic testing
  • Literature
Phenotypes
  • Idiopathic pulmonary arterial hypertension
  • IPAH
  • Heritable pulmonary arterial hypertension
  • HPAH
  • Pulmonary arterial hypertension
  • Pulmonary hypertension, primary, 2, 615342
OMIM
603295
Clinvar variants
Variants in SMAD9
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

6 Dec 2018, Gel status: 3

Added New Source, Status Update

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to SMAD9. Rating Changed from Green List (high evidence) to Green List (high evidence)

22 Jun 2017, Gel status: 4

panel promoted to version 1

Louise Daugherty (Genomics England Curator)

Panel reviews were assessed, and panel was revised according to reviews and further in-house curation.

22 Jun 2017, Gel status: 4

Upload gene information

Louise Daugherty (Genomics England Curator)

SMAD9 was added to Pulmonary arterial hypertensionpanel. Sources: Expert list

14 Jun 2017, Gel status: 4

Set publications

Louise Daugherty (Genomics England Curator)

Publications for SMAD9 were set to 20301658; 21920918; 19419974; 19211612; 21898662; 24355637;26387786

14 Jun 2017, Gel status: 4

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for SMAD9 were set to Idiopathic pulmonary arterial hypertension; IPAH; Heritable pulmonary arterial hypertension; HPAH; Pulmonary arterial hypertension; Pulmonary hypertension, primary, 2, 615342

14 Jun 2017, Gel status: 4

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for SMAD9 were set to diopathic pulmonary arterial hypertension; IPAH; Heritable pulmonary arterial hypertension; HPAH; Pulmonary arterial hypertension;Pulmonary hypertension, primary, 2, 615342

9 Jun 2017, Gel status: 4

Set publications

Louise Daugherty (Genomics England Curator)

Publications for SMAD9 were set to 20301658; 21920918; 19419974; 19211612; 21898662;24355637

9 Jun 2017, Gel status: 4

Upload gene information

Louise Daugherty (Genomics England Curator)

SMAD9 was added to Pulmonary arterial hypertensionpanel. Sources: Radboud University Medical Center, Nijmegen,UKGTN,Emory Genetics Laboratory,Illumina TruGenome Clinical Sequencing Services

9 Jun 2017, Gel status: 0

Upload gene information

Louise Daugherty (Genomics England Curator)

SMAD9 was added to Pulmonary arterial hypertensionpanel. Sources: Eligibility statement prior genetic testing

9 Jun 2017, Gel status: 0

Created

Louise Daugherty (Genomics England Curator)

SMAD9 was created by LouiseD

9 Jun 2017, Gel status: 0

Added New Source

Louise Daugherty (Genomics England Curator)

SMAD9 was added to Pulmonary arterial hypertensionpanel. Sources: Literature